Fig. 1.

Human ACHE SNP discovery. Nineteen SNPs are mapped to the ACHE gene extending from 7.5 kb of the upstream proximal CAP site through the termination codon to the second polyadenylation signal (AATAAA). ACHE SNP discovery using a deep-resequencing strategy revealed 4 nonsynonymous cSNPs (5, 6, 9, 7, 13), including the well known YT blood group antigen (Bartels et al., 1993); 3 synonymous cSNPs; 12 SNPs in untranslated or intronic regions, including 3 SNPs (SNP1–3) in the enhanceosome region of intron 1, with its highly conserved sequence; and 2 microsatellite repeats in the bracketed 3′-untranslated region. Corresponding amino acid sequences are indicated in the parentheses under the identified SNP. The six exons encompass an untranslated exon 1, exons 2 through 4 of invariant splice order, and two alternatively spliced exons, 5 and 6. This yields three distinct carboxyl-terminal sequences from a direct read-though after exon 4, an exon 4 to 5 splice, and an exon 5 to 6 splice (Li et al., 1991, 1993). A truncated soluble species ends at amino acid 547, the 5′ end of exon 4. Supplemental Table 1 details the National Institutes of Health dbSNP rs number and allelic frequencies.